Novel Mutations and Therapy Resistance Mechanisms in Pediatric Cancers

人类基因组计划已经确定了30，000或30，000个中的大部分， 所以人类基因。最近，对整个基因组进行大规模并行测序的能力 随着下一代和单分子测序仪的发展，基因组的数量增加。 据推测，在未来2- 5年内，将有可能对整个人类进行测序。 基因组的价格低于1000美元。通过协作网络，我的实验室已经存档了600多个 临床注释的神经母细胞瘤和超过100个横纹肌肉瘤肿瘤样品。通过 生物信息学技术，我们正在确定所有已知的神经母细胞瘤的目标， 横纹肌肉瘤我们正在使用微阵列和下一代测序的儿科 癌症基因组我们的目标是确定可以作为治疗靶点的激活突变 在高危神经母细胞瘤、横纹肌肉瘤和其他儿科癌症患者中， 目前还没有有效的治疗方法。另一个目标是利用基因改造 研究，如全基因组CRISPR研究和基因组学，以确定耐药机制 以及与药物或免疫疗法的协同组合。

The human genome project has identified categorized and sequenced most of the 30,000 or so human genes. Recently the ability to perform massively parallel sequencing of the whole genome has increased with the development of next generation and single molecule sequencers. It is speculated that within the next 2-5yrs it will be possible to sequence whole human genomes for under $1000. Through collaborative networks my lab has archived over 600 clinically annotated neuroblastoma, and over 100 rhabdomyosarcoma tumor samples. By bioinformatic techniques we are identifying all know targets in neuroblastoma and rhabdomyosarcoma. We are using microarray and next generation sequencing of the pediatric cancer genome. Our goal is to identify activating mutations that can be targeted for therapy in patients with high risk neuroblastoma, rhabdomyosarcoma, and other pediatric cancers for which there is no currently available therapy. Another goal is to utilize gene modification studies such as genome wide CRISPR studies and genomics to identify mechanism of resistance and synergistic combinations to drugs or immune therapy.